Karyotype 45,XX,−21/46,XX,21q− in an infant with symptoms of G-deletion syndrome I
An infant with antimongoloid eye slants, achalasia, broad nose, one low-set large and one rudimentary ear lobe, and rudimentary nails with a retarded psychomotor development showed an 45,XX,−21/46,XX,21q− karyotype. By fluorescence and Giemsa staining it was shown that the missing or deleted chromos...
Shranjeno v:
| izdano v: | J Med Genet |
|---|---|
| Principais autores: | , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMJ Publishing Group
1974
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013215/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4140913/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.11.4.389 |
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